Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1772, Issue 11-12, 2007, Pages 1225-1235

  Baruffini, Enrico ^a,b   Ferrero, Iliana ^a   Foury, Françoise ^b  

^a UNIVERSITY OF PARMA   (Italy)

^b UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

Disease; mip1 mutant; mtDNA; Mutation; POLG; Yeast

Indexed keywords

CIS TRANS ISOMERASE; DNA DIRECTED DNA POLYMERASE GAMMA; PROTEIN MIP1; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DNA DAMAGE; ENZYME ACTIVITY; ENZYME POLYMORPHISM; GENE FREQUENCY; GENE MUTATION; MOLECULAR INTERACTION; MUTAGENESIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE;

ALLELES; AMINO ACID SEQUENCE; DISEASE; DNA POLYMERASE I; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; ERYTHROMYCIN; GENE DOSAGE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; OXIDATION-REDUCTION; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS;

SACCHAROMYCES CEREVISIAE;

EID: 37049033589     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2007.10.002     Document Type: Article

References (37)

1. Kaguni L.S. DNA polymerase gamma, the mitochondrial replicase. Annu. Rev. Biochem. 73 (2004) 293-320
2. Foury F., and Vanderstraeten S. Yeast mitochondrial DNA mutators with deficient proofreading exonucleolytic activity. EMBO J. 11 (1992) 2717-2126
3. Yakubovskaya E., Chen Z., Carrodeguas J.A., Kisker C., and Bogenhagen D.F. Functional human mitochondrial DNA polymerase gamma forms a heterotrimer. J. Biol. Chem. 281 (2006) 374-382
4. Van Goethem G., Dermaut B., Lofgren A., Martin J.J., and Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet. 28 (2001) 211-212
5. Longley M.J., Graziewicz M.A., Bienstock R.J., and Copeland W.C. Consequences of mutations in human DNA polymerase gamma. Gene 354 (2005) 125-131
6. Hudson G., and Chinnery P.F. Mitochondrial DNA polymerase-gamma and human disease. Hum. Mol. Genet. 15 (2006) R244-R252
7. Di Fonzo A., Bordoni A., Crimi M., Sara G., Bo R.D., Bresolin N., and Comi G.P. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum. Mutat. 22 (2003) 498-499
8. Hisama F.M., Mancuso M., Filosto M., and DiMauro S. Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy. Am. J. Med. Genet. A. 135 (2005) 217-219
9. Horvath R., Hudson G., Ferrari G., Futterer N., Ahola S., Lamantea E., Prokisch H., Lochmuller H., McFarland R., Ramesh V., Klopstock T., Freisinge P., Salvi F., Mayr J.A., Santer R., Tesarova M., Zeman J., Udd B., Taylor R.W., Turnbull D., Hanna M., Fialho D., Suomalainen A., Zeviani M., and Chinnery P.F. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129 (2006) 1674-1684
10. Winterthun S., Ferrari G., He L., Taylor R.W., Zeviani M., Turnbull D.M., Engelsen B.A., Moen G., and Bindoff L.A. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64 (2005) 1204-1208
11. Van Goethem G., Luoma P., Rantamaki M., Al Memar A., Kaakkola S., Hackman P., Krahe R., Lofgren A., Martin J.J., De Jonghe P., Suomalainen A., Udd B., and Van Broeckhoven C. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 63 (2004) 1251-1257
12. Stuart G.R., Santos J.H., Strand M.K., Van Houten B., and Copeland W.C. Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. Hum. Mol. Genet. 15 (2006) 363-374
13. Baruffini E., Lodi T., Dallabona C., Puglisi A., Zeviani M., and Ferrero I. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum. Mol. Genet. 15 (2006) 2846-2855
14. Lecrenier N., and Foury F. Overexpression of the RNR1 gene rescues Saccharomyces cerevisiae mutants in the mitochondrial DNA polymerase-encoding MIP1 gene. Mol. Gen. Genet. 249 (1995) 1-7
15. Kaiser C., Michaelis S., and Mitchell A. Methods in Yeast Genetics: a Laboratory Course Manual (1994), Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
16. Ho S.N., Hunt H.D., Horton R.M., Pullen J.K., and Pease L.R. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 77 (1989) 51-59
17. Bonneaud N., Ozier-Kalogeropoulos O., Li G.Y., Labouesse M., Minvielle-Sebastia L., and Lacroute F. A family of low and high copy replicative, integrative and single-stranded S. cerevisiae/E. coli shuttle vectors. Yeast 7 (1991) 609-615
18. Foury F., and Vanderstraeten S. Yeast mitochondrial DNA mutators with deficient proofreading exonucleolytic activity. EMBO J. 11 (1992) 2717-2726
19. Slonimski P.P., and Tzagoloff A. Localization in yeast mitochondrial DNA of mutations expressed in a deficiency of cytochrome oxidase and/or coenzyme QH2-cytochrome c reductase. Eur. J. Biochem. 61 (1976) 27-41
20. Tzagoloff A., Needleman R.B., Akai A., and Zulch G. Assembly of the mitochondrial membrane system. Cytoplasmic mutants of Saccharomyces cerevisiae with lesions in enzymes of the respiratory chain and in the mitochondrial ATPase. J. Biol. Chem. 250 (1975) 8236-8242
21. Ferrari G., Lamantea E., Donati A., Filosto M., Briem E., Carrara F., Parini R., Simonati A., Santer R., and Zeviani M. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gamma A. Brain 128 (2005) 723-731
22. Davidzon G., Mancuso M., Ferraris S., Quinzii C., Hirano M., Peters H.L., Kirby D., Thorburn D.R., and DiMauro S. POLG mutations and Alpers syndrome. Ann. Neurol. 57 (2005) 921-923
23. Nguyen K.V., Ostergaard E., Ravn S.H., Balslev T., Danielsen E.R., Vardag A., McKiernan P.J., Gray G., and Naviaux R.K. POLG mutations in Alpers Syndrome. Neurology 65 (2005) 1493-1495
24. Kollberg G., Moslemi A.R., Darin N., Nennesmo I., Bjarnadottir I., Uvebrant P., Holme E., Melberg A., Tulinius M., and Oldfors A. POLG1 mutations associated with progressive encephalopathy in childhood. J. Neuropathol. Exp. Neurol. 65 (2006) 758-768
25. Lamantea E., Tiranti V., Bordoni A., Toscano A., Bono F., Servidei S., Papadimitriou A., Spelbrink H., Silvestri L., Casari G., Comi G.P., and Zeviani M. Mutations of mitochondrial DNA polymerase gamma are a frequent cause of autosomal dominant or recessive Progressive External Ophthalmoplegia. Ann. Neurol. 52 (2002) 211-219
26. Kollberg G., Jansson M., Perez-Bercoff A., Melberg A., Lindberg C., Holme E., Moslemi A.R., and Oldfors A. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations. Eur. J. Hum. Genet. 13 (2005) 463-469
27. Filosto M., Mancuso M., Nishigaki Y., Pancrudo J., Harati Y., Gooch G., Mankodi A., Bayne L., Bonilla E., Shanske S., Hirano M., and DiMauro S. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch. Neurol. 60 (2003) 1279-1284
28. Mancuso M., Filosto M., Bellan M., Liguori R., Montagna P., Baruzzi A., DiMauro S., and Carelli V. POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 62 (2004) 316-318
29. Baruffini E., Lodi T., Dallabona C., and Foury F. A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability. Genetics 177 (2007) 1227-1231
30. B. Dujon, Mitochondrial genetics and function, in: The Molecular Biology of the Yeast Saccharomyces: Life Cycle and Inheritance, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, pp. 505-635.
31. Tzagoloff A., Akai A., Needleman R.B., and Zulch G. Assembly of the mitochondrial membrane system. Cytoplasmic mutants of Saccharomyces cerevisiae with lesions in enzymes of the respiratory chain and in the mitochondrial ATPase. J. Biol. Chem. 250 (1975) 8236-8242
32. - clones. Mitochondria. Genetics and biogenesis of mitochondria (1977), Walter de Gruyter, Berlin, NY 133-138
33. Sor F., and Fukuhara H. Erythromycin and spiramycin resistance mutations of yeast mitochondria: nature of the rib2 locus in the large ribosomal RNA gene. Nucleic Acids Res. 12 (1984) 8313-8318
34. Chan S.S., Longley M.J., and Copeland W.C. Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphism in mitochondrial disorders. Hum. Mol. Genet. 15 (2006) 3473-3483
35. Ponamarev M.V., Longley M.J., Nguyen D., Kunkel T.A., and Copeland W.C. Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. J. Biol. Chem. 277 (2002) 15225-15228
36. Wanrooij S., Luoma P., Van Goethem G., Van Broeckhoven C., Suomalainen A., and Spelbrink J.N. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res. 32 (2004) 3053-3064
37. Thompson J.D., Higgins D.G., and Gibson T.J. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res. 22 (1994) 4673-4680